Absent radius-anogenital anomalies syndrome

Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.

Also known as: radial aplasia and anogenital anomalies, radial aplasia, X-linked, radius absent anogenital anomalies

1 clinical trial for this condition and its sub-types, 0 tagged with Absent radius-anogenital anomalies syndrome itself.